Trisomy 13 syndrome
ORPHA:3378· ICD-10 Q91.4
Definition
A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe intellectual disability and multiple congenital anomalies including holoprosencephaly, microcephaly, microphthalmia, scalp defect, cleft lip/palate, congenital heart defects, and postaxial polydactyly. Neurological involvement may lead to seizures and hypotonia.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal